A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144413



Internal ID343618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31963379..31963759hg38UCSC Ensembl
chr17:30290398..30290778hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712616
Samples
Known GenesSUZ12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144413
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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